Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment.

European journal of human genetics : EJHG - 1 Apr 2018

JanssensdeVarebeke Sebastien P F, Van Camp Guy, Peeters Nils, Elinck Ellen, Widdershoven Josine, Cox Tony, Deben Kristof, Ketelslagers Katrien, Crins Tom, Wuyts Wim

Abstract excerpt

Pathogenic variant in COCH are a known cause of DFNA9 autosomal dominant progressive hearing loss and vestibular dysfunction with adult onset. Hitherto, only dominant nonsynonymous variants and in-frame deletions with a presumed dominant negative or gain-of-function effect have been described. Here, we describe two brothers with congenital prelingual deafness and a homozygous nonsense c.292C>T(p.Arg98*) COCH...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Codon, Nonsense
Share to Deafness

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Extracellular Matrix Proteins

Share to Infant

Share to Loss of Function Mutation

Share to Pedigree

Share to Reflex

Share to Vestibule, Labyrinth

Source

Open in PubMed Open full text

Identifiers

PMID: 29449721
DOI: 10.1038/s41431-017-0066-2
PMCID: PMC5891501

Genes

COCH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment.PMID 29449721Read ↗

Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family.Semantic proximity Read ↗

Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunctionSemantic proximity Read ↗

A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss.Semantic proximity Read ↗

Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families.Semantic proximity Read ↗

Novel Loss-of-Function Mutations in <i>COCH</i> Cause Autosomal Recessive Nonsyndromic DeafnessSemantic proximity Read ↗

A novel frameshift variant of COCH supports the hypothesis that haploinsufficiency is not a cause of autosomal dominant nonsyndromic deafness 9.Semantic proximity Read ↗

Distinct vestibular phenotypes in DFNA9 families with COCH variants.Semantic proximity Read ↗

On the pathophysiology of DFNA9: Effect of pathogenic variants in the COCH gene on inner ear functioning in human and transgenic mice.Semantic proximity Read ↗

Hereditary cochleovestibular dysfunction due to a COCH gene mutation (DFNA9): a follow-up study of a family.Semantic proximity Read ↗

Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis.Semantic proximity Read ↗

Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation.Semantic proximity Read ↗

A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defectsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.